Linked Data
dbSNP Id:
rs121908408
gnomAD v2:
5-14711314-TCTC-T
gnomAD v4:
5-14711205-TCTC-T
PubMed:
PMID:12297987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14711209_14711211del , CM000667.2:g.14711209_14711211del | GRCh38 |
| NC_000005.9:g.14711318_14711320del , CM000667.1:g.14711318_14711320del | GRCh37 |
| NC_000005.8:g.14764318_14764320del | NCBI36 |
| NG_008273.1:g.165571_165573del | |
| NG_008273.2:g.165578_165580del | |
| NG_051625.1:g.55416_55418del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284268.8:c.1468_1470del (ANKH) MANE Select | ENSP00000284268.6:p.Glu490del | |
| ENST00000284268.6:c.1468_1470del (ANKH) | ENSP00000284268.6:p.Glu490del | |
| ENST00000502585.1:n.710_712del (ANKH) | ||
| NM_054027.4:c.1468_1470del (ANKH) | NP_473368.1:p.Glu490del | |
| XM_011514151.1:c.*47-1513_*47-1511del (OTULIN) | XP_011512453.1:n.*47-1513_*47-1511del | |
| NM_054027.5:c.1468_1470del (ANKH) | NP_473368.1:p.Glu490del | |
| XM_011514151.2:c.*47-1513_*47-1511del (OTULIN) | XP_011512453.1:n.*47-1513_*47-1511del | |
| XM_017009644.2:c.1384_1386del (ANKH) | XP_016865133.1:p.Glu462del | |
| NM_054027.6:c.1468_1470del (ANKH) MANE Select | NP_473368.1:p.Glu490del |